Canonical Allele Identifier: CA413007369

Linked Data

ClinVar Variation Id: 2138555
ClinVar RCV Id: RCV003050610
gnomAD v4: X-43949863-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949863C>T , CM000685.2:g.43949863C>T GRCh38
NC_000023.10:g.43809109C>T , CM000685.1:g.43809109C>T GRCh37
NC_000023.9:g.43694053C>T NCBI36
NG_009832.1:g.28813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.338G>A (NDP) MANE Select ENSP00000495972.1:p.Gly113Asp
ENST00000647044.1:c.338G>A (NDP) ENSP00000495811.1:p.Gly113Asp
ENST00000378062.5:c.338G>A (NDP) ENSP00000367301.5:p.Gly113Asp
ENST00000470584.1:n.382G>A (NDP)
NM_000266.3:c.338G>A (NDP) NP_000257.1:p.Gly113Asp
NR_046631.1:n.132C>T (NDP-AS1)
NM_000266.4:c.338G>A (NDP) MANE Select NP_000257.1:p.Gly113Asp